X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype
X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype
复制标题
Rett 综合征中 X 染色体失活及其与 MeCP2 突变和表型的相关性
DOI：
10.1177/0883073807307077
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发表时间：
2008-01-01
影响因子：
1.9
通讯作者：
Wu, Xi-Ru
中科院分区：
文献类型：
--
作者：
Bao, Xinhua;Jiang, Shengling;Wu, Xi-Ru
Rett综合征（RTT）是一种X连锁显性遗传神经发育障碍，主要由甲基化CpG结合蛋白2（MECP2）基因突变引起。基因型、X染色体失活（XCI）和表型之间的相关性已被研究，但结果是相互矛盾的。在本研究中，XCI模式的患者和他们的母亲，父母的偏侧X染色体的患者的起源，和XCI，基因型和表型之间的相关性进行了分析，在52例RTT与MECP2突变，50 WIT母亲，和48名正常女性对照。结果表明，XCI和基因型在解释RTT的所有表型表现方面存在局限性。必须考虑其他基因组因素来解释表型差异。
Rett syndrome (RTT) is an X-linked dominant neurodevelopment disorder, which is mainly caused by gene mutation of methyl-CpG-binding protein 2 (MECP2). The correlations between genotype, X chromosome inactivation (XCI), and phenotype have been studied, but the results are conflicting. In the present study, XCI patterns in patients and their mothers, parental origin of skewed X chromosome in patients, and the correlations between XCI, genotype, and phenotype were analyzed in 52 cases of RTT with MECP2 mutations, 50 WIT mothers, and 48 normal female controls. The results showed XCI and genotype had limitations in explaining all the phenotypic manifestations of RTT. Other genomic factors have to be considered to explain the phenotypic differences.